CAPN5, calpain 5, 726

N. diseases: 46; N. variants: 10
Disease: Proliferative vitreoretinopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514601
rs397514601
Entrez Id: 726
Gene Symbol: CAPN5
CAPN5
CUI: C0242852
Disease:
Proliferative vitreoretinopathy 		0.800 GeneticVariation UNIPROT Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. 23055945 2012
dbSNP: rs397514601
rs397514601
Entrez Id: 726
Gene Symbol: CAPN5
CAPN5
CUI: C0242852
Disease:
Proliferative vitreoretinopathy 		T 0.800 CausalMutation CLINVAR